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PubMed2004

[Polymorphisms and species specificity of D2S2944 and D1S2134 loci in Chinese Han population in Chengdu].

OBJECTIVE: To obtain the data of polymorphism distribution of the two STR loci D2S2944, D1S2134 in Chinese Han population in Chengdu and evaluate their usefulness in the field of forensic science. METHODS: PCR, polyacrylamide gel electrophoresis (PAGE) and silver staining were used to analyze 120 unrelated individuals of Chinese Han ethnic group in Chengdu. Fourteen different animals: monkey, pig, dog, bull, goat, chicken, duck, fish, cat, rabbit, Guinea pig, mouse, eel and frog were selected as controls in this study for evaluating the species specificity of the two STR loci. RESULTS: Eight alleles and twenty-two genotypes were found in D2S2944. The observed heterozygosity (h), discrimination power (DP), polymorphism information content (PIC), chance of paternity exclusion power (EP) were 0.824, 0.925, 0.78, 0.644 respectively. Ten alleles and twenty-six genotypes were observed in D1S2134. The h, DP, PIC and EP were 0.769, 0.920, 0.79, 0.543 respectively. The genotype distributions of the two loci were analyzed by some related software and no deviation from the Hardy-Weinberg equilibrium was observed. Evaluated by way of using different animals as controls, the two STR loci of human beings were found to have good specificity. CONCLUSION: These data indicate that D1S2134 and D2S2944 are of good polymorphism, high EP and DP, and can be applied as the candidate genetic marks to forensic parentage testing and identification. The methods to analyze them are simple, dependable and repeatable.

Alleles↗
PubMed2006

Ancient retroviral insertions among human populations.

Human endogenous retroviruses (HERVs) represent vestiges of ancient infections that resulted in stable integration of the viral genome. These insertional elements of viral origin are in fact molecular fossils and, as such, a source of evolutionary information. A family of HERV insertions designated HERV-K includes members that are still polymorphic for the original insertional event. The goal of this report is to describe a novel genetic marker system based on polymorphic retroviral insertions (PRVIs) and to assess its potential usefulness in human population genetic analyses. The allelic frequencies of four insertionally polymorphic HERV-K loci were analyzed in nine geographically targeted, worldwide populations. A polymerase chain reaction assay was employed to examine the frequencies of the provirus and/or solo long terminal repeat insertions at these four loci. Several statistical and phylogenetic analyses were performed based on the frequency data. The phylogenetic relationships observed among the nine populations based on the four retroviral HERV-K loci are consistent not only with prior genetic analyses with other traditional marker systems but also with reported historical and biogeographical data. These polymorphic endogenous retroviral sequences display features that make them excellent tools for forensic and population genetic studies.

Alleles↗
PubMed2003

[Seven Y-specific loci haplotypes and their usefulness in forensic casework].

OBJECTIVE: To study genetic polymorphism of 7 Y-specific short tandem repeats (STR) and assess their usefulness in forensic casework. METHODS: 7 Y-STR have been amplified in two multiplex reactions, (Multiplex I:DYS391, GATA-A4, GATA-A10 and GATA-H4. Multiplex II:DYS439,DYS437 and DYS434). PCR products were separated by polyacrylamide gels electrophoresis followed by silver stain. RESULTS: When 372 unrelated individuals from the Han population in Guangdong were detected by those system, DYS391, GATA-A4, GATA-A10, GATA-H4,DYS439,DYS437 and DYS434 showed 5,7,6,5,6,4,4 alleles, respectively. A total of 254 different haplotypes were identified, of which 201 (79.13%) were found in single individuals. The overall haplotypes diversity reached 0.9960. CONCLUSION: The 7 Y-STR loci are highly genetic polymorphism and they will be very powerful for establishing Y-STR database, understanding human origin, paternity testing and personal identification.

Alleles↗
PubMed2006

[The genetic polymorphisms of nine Y-STR loci with short fragment size alleles in southern Chinese Han population and its application in forensic science].

OBJECTIVE: To study the genetic polymorphisms of 9 Y-chromosome specific STR loci that the allele size is less than 180 bp in length in the southern Chinese Han population, and to utilize the studied result to forensic science. METHODS: Nine Y-STR loci were amplified by single multiplex PCR, and the PCR products were sequenced by using ABI Prism 3100 DNA Sequencer. The allele and haplotype frequencies at 9 Y-STR loci were determined in a total of 213 unrelated males from southern Chinese Han population. Eighty-four father/son pairs with demonstrated paternity and thirty-six non-paternity father/son pairs were detected by using our Y-STR multiplex system. RESULTS: Three Y-STR alleles for DYS426, five alleles for DYS393, DYS460, DYS391 and DYS389 I respectively, six alleles for DYS456, seven alleles for both H4 and DYS388, and eight alleles for DYS458 loci were detected in 213 unrelated male individuals. Except for the DYS426 locus with a low GD value of 0.1489, the GD values for other 8 Y-STR loci ranged from 0.5064 to 0.9133. A total of 178 haplotypes were found at 9 Y-STR loci, of which 154 haplotypes were observed only once, and the haplotype diversity was 0.9983. None of Y-STR allele mutation was observed in the 84 father/son pairs with demonstrated paternity. Among the 36 non-paternity father/son pairs, two cases could get the paternity exclusions at 2 Y-STR loci; and the paternity of 33 cases could be ruled out by 3 or more Y-STR loci; only one case was found no exclusion of paternity regardless of detecting 9 Y-STR loci. CONCLUSION: This result indicates that the 9 Y-STR loci with short fragment size alleles are highly polymorphic. The fluorescent multiplex amplification system that we developed is suitable for personal identification and paternity testing.

Alleles↗
PubMed1997

Polymorphism of short tandem repeat (STR) loci PLA2, D3S2459, D8S315 (kw38), CYP19, D3S1359, FGA, and D8S1132 in the Japanese and Chinese populations.

We report a study of polymorphism for seven short tandem repeat (STR) loci in Japanese and Chinese populations. Among 104 to 134 individuals in the both population samples, eight alleles were revealed for locus PLA2, thirteen for D3S1359, eleven for FGA, eight for D8S315 (kw38), ten for D8S1132, five for CYP19, and seven for D3S2459. They correspondingly constituted 10 to 39 genotypes therein. For most of the STRs, there was only a single allele active as the most frequent one among the others, except locus D3S1359 in Chinese samples (two alleles, 206 bp and 210 bp, frequency = 0.273 each). Also, the population genotype configurations were locus specific, varying in the patterns of commonest genotypes on each locus, e.g., one pattern for loci CYP19, D3S1359, and D8S315, one and two for loci PLA2 and D3S2459, two for locus D8S1132, and one and four for locus FGA. The distributions of observed genotypes were in Hardy-Weinberg Equilibrium. Furthermore, the seven STRs were exhibited highly polymorphic and informative for the both populations, and the alleles could be easily separated in electrophoresis and correctly interpreted with side-to-side allelic ladders. Together, the results suggest that the tri- and tetra-meric STRs are useful genetic markers for forensic practice.

Alleles↗
PubMed1999

The spectrum of microsatellite loci on chromosomes 7 and 8 in Taiwan aboriginal populations: a comparative population genetic study.

Sixteen microsatellite loci on chromosomes 7 and 8 of Han-Taiwanese and six Taiwan aboriginal populations were systematically analyzed by a high-resolution multiple-fluorescence-based polymerase chain reaction technique. Analysis of allele frequency distribution indicated the genetic divergence among these populations. Several alleles were unique to specific tribes. Only the D8S556 locus deviated from Hardy-Weinberg equilibrium in all tribes. Its F(IS) level, as calculated with the Nei method, was also higher and more homozygous than expected. Therefore, with the exception of D8S556, these variable number of tandem repeats (VNTR) loci are suitable genetic markers for forensic and paternal testing. The F(ST) level, as the proportion of the total variation among these tribes, ranged from 1.4% at the D7S484 locus to 6.8% at the D7S550 locus. The average F(ST) was 3.9%, suggesting that there were substantial variations among these populations. The genetic identity analysis and the genetic distance analysis reached the same conclusions, viz., that the Ami and the Paiwan tribes were genetically close to each other, that the Atayal tribe was relatively unique compared with other tribes, and that the Saisiat tribe was relatively close to the Han-Taiwanese. A dendrogram for these tribes was further constructed by the UPGMA method. These VNTR data not only facilitate forensic and paternity testing, but also provide anthropometric information for further elucidating the relationship of Taiwan populations to the Austronesian family.

Asian People↗
PubMed1975

Polymorphism of esterase D in some population groups in Japan.

Electrophoretic types of red cell esterase D (Es D) have been determined in more than 1,000 blood samples from Tokyo. The allele frequency for Es D2 was found to be 0.342. Typing was also carried out in samples of the Ainu of Hokkaido and of the Ryukyuans of the Okinawa Island: the Es D2 frequencies were found to be 0.273 and 0.369, respectively. These values are considerably higher than those described in Europeans, Negroes and even in Asiatic Indians. The results indicate that Es D with a marked degree of heterogeneity is a valuable marker for genetic, anthropological and forensic application in Mongoloid groups.

Asian People↗
PubMed2004

Genetics and attribution issues that confront the microbial forensics field.

The commission of an act of bioterrorism or biocrime is a real concern for law enforcement and society. Efforts are underway to develop a strong microbial forensic program to assist in identifying perpetrators of acts of bioterrorism and biocrimes, as well as serve as a deterrent for those who might commit such illicit acts. Genetic analyses of microbial organisms will likely be a powerful tool for attribution of criminal acts. There are some similarities to forensic human DNA analysis practices, such as: molecular biology technology, use of population databases, qualitative conclusions of test results, and the application of QA/QC practices. Differences include: database size and composition, statistical interpretation methods, and confidence/uncertainty in the outcome of an interpretation.

Bioterrorism↗
PubMed1991

Inter-alpha-trypsin inhibitor (ITI): a useful genetic system in paternity testing. Evidence for polymorphic occurrence of ITI*3 and existence of a new allele, ITI*4.

The genetic polymorphism of human inter-alpha-trypsin inhibitor (ITI) has been investigated in sialidase-treated samples by isoelectric focusing on polyacrylamide gels with a pH range 3.5-9.5 followed by passive blotting with enzyme immunoassay. In 400 blood donors from western Japan, 8 simplified band patterns were observed, 6 of which could be explained by the previously described 3 polymorphic alleles, ITI*1, ITI*2, and ITI*3. The others were products of a new and rare fourth allele designated ITI*4, whose expression is also consistent with autosomal codominant inheritance. The frequency of these alleles was 0.440, 0.526, 0.030 and 0.004, respectively. The theoretical exclusion rate for putative fathers in paternity cases was calculated to be 0.228. The ITI system is a useful genetic marker for forensic hemogenetics in Japanese and in Europeans.

Alleles↗
PubMed1999

Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography.

Mitochondrial DNA control region sequences were determined in 109 unrelated German Caucasoid individuals from north west Germany for both hypervariable regions 1 (HV1) and 2 (HV2) and 100 polymorphic nucleotide positions (nps) were found, 63 in HV1 and 37 in HV2. A total of 100 different mtDNA lineages was revealed, of which 7 were shared by 2 individuals and 1 by 3 individuals. The probability of drawing a HV1 sequence match within the north west Germans or within published sets of south Germans and west Austrians is similar (within a factor of 2) to drawing a sequence match between any two of these three population samples. Furthermore, HV1 sequences of 700 male inhabitants of one village in Lower Saxony were generated and these showed a nearly linear increase of the number of different haplotypes with increasing number of individuals, demonstrating that the commonly used haplotype diversity measure (Nei 1987) for population samples tends to underestimate mtDNA diversity in the actual population.

Austria↗
PubMedDate not supplied

Analysis of mtDNA HVRII in several human populations using an immobilised SSO probe hybridisation assay.

Several populations were typed for the hypervariable region II (HVRII) of the mitochondrial DNA (mtDNA) control region using immobilised sequence-specific oligonucleotide (SSO) probes. A total of 16 SSO probes was used to type 1081 individuals from eight different ethnic groups (African Americans, Somali, US Europeans, US Hispanics, Bosnians, Finns, Saami and Japanese). Data was compared with already published sequence data by analysis of principal components, genetic distances and analysis of the molecular variance (AMOVA). The analyses performed group the samples in several clusters according to their geographical origins. Most of the variability detected is assigned to differences between individuals and only 7% is assigned to differences among groups of populations within and between geographical regions. Several features are patent in the samples studied: Somali, as a representative East African population, seem to have experienced a detectable amount of Caucasoid maternal influence; different degrees of admixture in the US samples studied are detected; Finns and Saami belong to the European genetic landscape, although Saami present an outlier position attributable to a strong maternal founder effect. The technique used is a rapid and simple method to detect human variation in the mtDNA HVRII in a large number of samples, which might be useful in forensic and population genetic studies.

Bosnia and Herzegovina↗
PubMedDate not supplied

[Distribution of D1S80 alleles in a random sample of the population of the Russian Federation].

The distribution of alleles of chromosomal locus D1S80 was studied within a random selection of population of the Russian Federation. Typing was made for 255 persons who were not blood relatives and who lived in 56 Russia's regions. A correlation was found between the observed frequencies of genotypes and those theoretically expected and estimated on the basis of the hypothesis of Hardy-Weinberg equilibrium. The main population characteristics of locus D1S80, i.e. probability of an incidental coincidence of a genotype, discriminating potential, polymorphism factor, potential excluding cases of incorrectly named parents and mean value of paternity index, were estimated to evaluate the efficiency of the locus as a molecular-genetic marker in solving the identification tasks applicable to Russia's population. The obtained descriptive data on the distribution of alleles of the studied locus in Russia's population can be used to determine the needed estimated parameters in interpreting the results of forensic molecular-genetic identification examinations.

Alleles↗
PubMed1995

[Amplified fragment length polymorphism of the VNTR locus COL2A1 in Chinese population].

The amplifiable VNTR polymorphic system COL2A1 has been investigated in a Chinese Han population (n = 120) by the polymerase chain reaction (PCR) and PAGE horizontal electrophoresis followed by silver stain. In order to accurately identify COL2A1 alleles, a number of human allele ladders prepared by mixing DNAs extracted from different individuals of known COL2A1 genotypes were used. A total of 14 different alleles in 23 genotypes were observed in this Chinese Han population. Among them, four were new alleles disclosed in the present study. The results imply that COL2A1 locus may be served as a genetic marker in forensic haemogenetics as well as in anthropogenetics.

Base Sequence↗
PubMed1991

Population genetics of hypervariable loci: analysis of PCR based VNTR polymorphism within a population.

Using a polymerase chain reaction (PCR) based method, genotypes at two hypervariable loci (3' to the Apo-B-structural gene and at the ApoC-II gene) were determined by size classification of alleles. Genotype data at the Apo-B locus (Apo-B VNTR) were obtained on 240 French Caucasians; the sample size for the ApoC-II VNTR was 162. For 160 individuals two-locus genotype data were available. Applications of some recently developed statistical methods to these data indicate that both of these loci are at Hardy-Weinberg equilibrium (HWE) and there is no indication of allelic associations between these two unlinked loci. In addition, the observed numbers of alleles (12 for the Apo-B and 11 for the ApoC-II VNTR loci) are also consistent with their respective expectations based on the observed heterozygosities (76.9% for the Apo-B and 85.9% for the ApoC-II loci) suggesting genetic homogeneity of this population-based sample. The multimodal distribution of allele sizes observed for both loci indicate that the production of new alleles at such VNTR loci may be caused by more than one molecular mechanism. The utility of such highly polymorphic loci for human genetic research and forensic applications are discussed in the context of these findings.

Alleles↗